1. Adamsen D, Meili D, Blau N, Thony B, Ramaekers V. {{Autism associated with low 5-hydroxyindolacetic acid in CSF and the heterozygous SLC6A4 gene Gly56Ala plus 5-HTTLPR L/L promoter variants}}. {Mol Genet Metab}. 2010 Nov 29.
The known Gly56Ala mutation in the serotonin transporter SERT (or 5-HTT), encoded by the SLC6A4 gene, causes increased serotonin reuptake and has been associated with autism and rigid-compulsive behavior. We report a patient with macrocephaly from birth, followed by hypotonia, developmental delay, ataxia and a diagnosis of atypical autism (PDD-NOS) in retrospect at the age of 4(1/2)years. Low levels of the serotonin end-metabolite 5-hydroxyindolacetic acid (5HIAA) in CSF were detected, and SLC6A4 gene analysis revealed the heterozygous Gly56Ala alteration and the homozygous 5-HTTLPR L/L promoter variant. These changes are reported to be responsible for elevated SERT activity and expression, suggesting that these alterations were responsible in our patient for low serotonin turnover in the central nervous system (CNS). Daily treatment with 5-hydroxytryptophan (and carbidopa) led to clinical improvement and normalization of 5HIAA, implying that brain serotonin turnover normalized. We speculate that the mutated 56Ala SERT transporter with elevated expression and basal activity for serotonin re-uptake is accompanied with serotonin accumulation within pre-synaptic axons and their vesicles in the CNS, resulting in a steady-state of lowered serotonin turnover and degradation by monoamine-oxidase (MAO) enzymes in pre-synaptic or neighboring cells.
2. Cochrane LE, Tansey KE, Gill M, Gallagher L, Anney RJ. {{Lack of association between markers in the ITGA3, ITGAV, ITGA6 and ITGB3 and autism in an Irish sample}}. {Autism Res}. 2010 Dec;3(6):342-4.
3. de Marchena A, Eigsti IM. {{Conversational gestures in autism spectrum disorders: Asynchrony but not decreased frequency}}. {Autism Res}. 2010 Dec;3(6):311-22.
Conversational or « co-speech » gestures play an important role in communication, facilitating turntaking, providing visuospatial information, clarifying subtleties of emphasis, and other pragmatic cues. Consistent with other pragmatic language deficits, individuals with autism spectrum disorders (ASD) are said to produce fewer conversational gestures, as specified in many diagnostic measures. Surprisingly, while research shows fewer deictic gestures in young children with ASD, there is a little empirical evidence addressing other forms of gesture. The discrepancy between clinical and empirical observations may reflect impairments unrelated to frequency, such as gesture quality or integration with speech. Adolescents with high-functioning ASD (n=15), matched on age, gender, and IQ to 15 typically developing (TD) adolescents, completed a narrative task to assess the spontaneous production of speech and gesture. Naive observers rated the stories for communicative quality. Overall, the ASD group’s stories were rated as less clear and engaging. Although utterance and gesture rates were comparable, the ASD group’s gestures were less closely synchronized with the co-occurring speech, relative to control participants. This gesture-speech synchrony specifically impacted communicative quality across participants. Furthermore, while story ratings were associated with gesture count in TD adolescents, no such relationship was observed in adolescents with ASD, suggesting that gestures do not amplify communication in this population. Quality ratings were, however, correlated with ASD symptom severity scores, such that participants with fewer ASD symptoms were rated as telling higher quality stories. Implications of these findings are discussed in terms of communication and neuropsychological functioning in ASD.
4. Gale CM, Eikeseth S, Rudrud E. {{Functional Assessment and Behavioural Intervention for Eating Difficulties in Children with Autism: A study Conducted in the Natural Environment Using Parents and ABA Tutors as Therapists}}. {J Autism Dev Disord}. 2010 Dec 22.
Two functional assessments (interview and direct observation) were used with three children with autism to identify the functions maintaining mealtime behaviour including acceptance, mouth clean, refusal, and other disruptive behaviours such as crying and pushing the spoon. Based on results of the functional assessments it was hypothesized that appropriate and disruptive mealtime behaviour was maintained by different contingencies. A non-concurrent multiple baseline design across participants was utilized to validate the effectiveness of the intervention. Intervention for all participants included presentation of food on a spoon for 30 s unless acceptance occurred. Acceptance resulted in putative reinforcement. The meal ended after 20 presentations. For all participants, acceptance and mouth cleans increased while disruptive behaviour decreased, and effects were maintained at follow-up.
5. Grether JK, Croen LA, Anderson MC, Nelson KB, Yolken RH. {{Neonatally measured immunoglobulins and risk of autism}}. {Autism Res}. 2010 Dec;3(6):323-32.
Previous studies indicate that prenatal exposure to infections is a possible pathway through which autism spectrum disorders (ASD) could be initiated. We investigated whether immunoglobulin levels in archived specimens obtained from newborns subsequently diagnosed with ASD are different from levels in newborn specimens from controls. Children with ASD born in six California counties in 1994 were ascertained through records of the California Department of Developmental Services (DDS) and Kaiser Permanente; controls were randomly selected using birth certificates. Archived newborn blood specimens were obtained from the California Genetic Disease Screening Program (GDSP) for N = 213 cases and N = 265 controls and assayed to determine levels of total IgG, antigen-specific IgG to selected common pathogens, total IgM, total IgA, and C-reactive protein (CRP). We did not find measurable levels of total IgM or IgA in any neonate and measurable CRP was present in only a few. No antigen-specific IgG antibodies were elevated in cases compared to controls and total IgG levels were lower. In adjusted models, a 10-unit increase in total IgG yielded an OR = 0.72 (95% CI 0.56, 0.91); a significantly decreasing trend in risk of ASD was observed across increasing exposure quartiles of total IgG (P = 0.01). The finding of lower IgG in cases may indicate maternal immune dysfunction during gestation and/or impaired transplacental transfer of immunoglobulins. Further investigation of IgG levels in newborns and the mechanisms by which they might be associated with ASD are warranted.
6. Lange N, Dubray MB, Lee JE, Froimowitz MP, Froehlich A, Adluru N, et al. {{Atypical diffusion tensor hemispheric asymmetry in autism}}. {Autism Res}. 2010 Dec;3(6):350-8.
Background: Biological measurements that distinguish individuals with autism from typically developing individuals and those with other developmental and neuropsychiatric disorders must demonstrate very high performance to have clinical value as potential imaging biomarkers. We hypothesized that further study of white matter microstructure (WMM) in the superior temporal gyrus (STG) and temporal stem (TS), two brain regions in the temporal lobe containing circuitry central to language, emotion, and social cognition, would identify a useful combination of classification features and further understand autism neuropathology. Methods: WMM measurements from the STG and TS were examined from 30 high-functioning males satisfying full criteria for idiopathic autism aged 7-28 years and 30 matched controls and a replication sample of 12 males with idiopathic autism and 7 matched controls who participated in a previous case-control diffusion tensor imaging (DTI) study. Language functioning, adaptive functioning, and psychotropic medication usage were also examined. Results: In the STG, we find reversed hemispheric asymmetry of two separable measures of directional diffusion coherence, tensor skewness, and fractional anisotropy. In autism, tensor skewness is greater on the right and fractional anisotropy is decreased on the left. We also find increased diffusion parallel to white matter fibers bilaterally. In the right not left TS, we find increased omnidirectional, parallel, and perpendicular diffusion. These six multivariate measurements possess very high ability to discriminate individuals with autism from individuals without autism with 94% sensitivity, 90% specificity, and 92% accuracy in our original and replication samples. We also report a near-significant association between the classifier and a quantitative trait index of autism and significant correlations between two classifier components and measures of language, IQ, and adaptive functioning in autism.
7. Lerer E, Levi S, Israel S, Yaari M, Nemanov L, Mankuta D, et al. {{Low CD38 expression in lymphoblastoid cells and haplotypes are both associated with autism in a family-based study}}. {Autism Res}. 2010 Dec;3(6):293-302.
8. McHugh L, Bobarnac A, Reed P. {{Brief Report: Teaching Situation-Based Emotions to Children with Autistic Spectrum Disorder}}. {J Autism Dev Disord}. 2010 Dec 24.
Many individuals with autism spectrum disorders (ASD) have difficulty recognizing emotions in themselves and others. Three children (all males) participated in the study. In a multi-element design children with ASD were trained to tact situation-based emotions (i.e., « happy », « sad », « angry », and « afraid ») using novel video based scenarios. To increase the likelihood that each child would learn a generalized repertoire of emotion understanding, multiple exemplars of emotion identification were trained using a multi-component procedure. The results indicated significant increases in tacting situation-based emotions. To evaluate the generalization of training, novel video stories were employed that depicted the trained emotions. The findings indicated generalization of situation-based emotional tacting to the novel video stories.
9. Quintin EM, Bhatara A, Poissant H, Fombonne E, Levitin DJ. {{Emotion Perception in Music in High-Functioning Adolescents With Autism Spectrum Disorders}}. {J Autism Dev Disord}. 2010 Dec 22.
Individuals with Autism Spectrum Disorders (ASD) succeed at a range of musical tasks. The ability to recognize musical emotion as belonging to one of four categories (happy, sad, scared or peaceful) was assessed in high-functioning adolescents with ASD (N = 26) and adolescents with typical development (TD, N = 26) with comparable performance IQ, auditory working memory, and musical training and experience. When verbal IQ was controlled for, there was no significant effect of diagnostic group. Adolescents with ASD rated the intensity of the emotions similarly to adolescents with TD and reported greater confidence in their responses when they had correctly (vs. incorrectly) recognized the emotions. These findings are reviewed within the context of the amygdala theory of autism.
10. Rajapakse T, Pringsheim T. {{Pharmacotherapeutics of tourette syndrome and stereotypies in autism}}. {Semin Pediatr Neurol}. 2010 Dec;17(4):254-60.
Tourette syndrome (TS) and stereotypy in autism spectrum disorders (ASDs) are 2 common movement disorders in childhood. The objective of this review was to summarize randomized controlled trials published over the past 5 years as an update of the current pharmacotherapeutic options for the treatment of tics, TS, and motor stereotypies in children with ASD. We searched MEDLINE (2005-May 2010) for randomized controlled trials of medications used for the treatment of these disorders. For the treatment of tics in TS, 2 trials suggest that levetiracetam is not effective, whereas 1 trial found that topiramate was effective. Single clinical trials of metoclopramide, atomoxetine, and ondansetron were of limited quality, preventing conclusions to be made regarding the usefulness of these treatments for tic disorders. For the treatment of stereotypy in children with ASD, risperidone has been shown in both a Cochrane review in 2006 and 2 subsequent randomized control trials to be effective. The addition of pentoxifylline to risperidone may have added benefit. Haloperidol did not improve stereotypy and was poorly tolerated. There is good evidence that aripiprazole is effective in the treatment of sterotypies in children with ASD. A large randomized trial of citalopram did not show any improvement in stereotypy. Single trials of levetiracetam, guanfacine, and atomoxetine suggest they are not useful in the reduction of stereotypy in children with ASD.
11. Rajendran G, Law AS, Logie RH, van der Meulen M, Fraser D, Corley M. {{Investigating Multitasking in High-Functioning Adolescents with Autism Spectrum Disorders Using the Virtual Errands Task}}. {J Autism Dev Disord}. 2010 Dec 23.
Using a modified version of the Virtual Errands Task (VET; McGeorge et al. in Presence-Teleop Virtual Environ 10(4):375-383, 2001), we investigated the executive ability of multitasking in 18 high-functioning adolescents with ASD and 18 typically developing adolescents. The VET requires multitasking (Law et al. in Acta Psychol 122(1):27-44, 2006) because there is a limited amount of time in which to complete the errands. ANCOVA revealed that the ASD group completed fewer tasks, broke more rules and rigidly followed the task list in the order of presentation. Our findings suggest that executive problems of planning inflexibility, inhibition, as well as difficulties with prospective memory (remembering to carry out intentions) may lie behind multitasking difficulties in ASD.
12. Salyakina D, Ma DQ, Jaworski JM, Konidari I, Whitehead PL, Henson R, et al. {{Variants in several genomic regions associated with asperger disorder}}. {Autism Res}. 2010 Dec;3(6):303-10.
Asperger disorder (ASP) is one of the autism spectrum disorders (ASD) and is differentiated from autism largely on the absence of clinically significant cognitive and language delays. Analysis of a homogenous subset of families with ASP may help to address the corresponding effect of genetic heterogeneity on identifying ASD genetic risk factors. To examine the hypothesis that common variation is important in ASD, we performed a genome-wide association study (GWAS) in 124 ASP families in a discovery data set and 110 ASP families in a validation data set. We prioritized the top 100 association results from both cohorts by employing a ranking strategy. Novel regions on 5q21.1 (P = 9.7 x 10(-7) ) and 15q22.1-q22.2 (P = 7.3 x 10(-6) ) were our most significant findings in the combined data set. Three chromosomal regions showing association, 3p14.2 (P = 3.6 x 10(-6) ), 3q25-26 (P = 6.0 x 10(-5) ) and 3p23 (P = 3.3 x 10(-4) ) overlapped linkage regions reported in Finnish ASP families, and eight association regions overlapped ASD linkage areas. Our findings suggest that ASP shares both ASD-related genetic risk factors, as well as has genetic risk factors unique to the ASP phenotype.
13. Spector JE. {{Sight Word Instruction for Students with Autism: An Evaluation of the Evidence Base}}. {J Autism Dev Disord}. 2010 Dec 24.
This paper reviews the evidence on sight word instruction as a method of teaching students with autism and significant cognitive and verbal limitations to read printed words. Nine single-subject studies were rated using Reichow et al.’s (J Autism Dev Disord 38:1311-1319, 2008) evaluative method for identifying evidence-based practice, and studies with at least adequate methodology were analyzed to identify common intervention features. Results yielded evidence in support of a massed trials approach featuring student response to a succession of items, differential positive reinforcement, systematic prompting, and use of visual supports. Across studies, students learned to identify printed words, even those with limited oral language and no prior reading instruction. However, no studies addressed the effects of sight word instruction on broad literacy outcomes.
14. Taylor JL, Seltzer MM. {{Changes in the Mother-Child Relationship During the Transition to Adulthood for Youth with Autism Spectrum Disorders}}. {J Autism Dev Disord}. 2010 Dec 24.
We examined whether exiting high school was associated with changes in the mother-child relationship. Participants were 170 mothers of youth with ASD who were part of our larger longitudinal study and who exited high school during the study; data were collected four times over 7 years. Results indicated improvement in the mother-child relationship while in high school; however, improvement in all indices slowed or stopped after exit. Mothers of youth with ASD without an intellectual disability (ID) and who had more unmet service needs evidenced the least improvement after exit. Our findings provide further evidence that the years after high school exit are a time of increased risk, especially for those with ASD without ID and whose families are under-resourced.
15. Werner S. {{Assessing female students’ attitudes in various health and social professions toward working with people with autism: A preliminary study}}. {J Interprof Care}. 2010 Dec 23.
A range of professionals needs to work collaboratively in providing services for the growing numbers of people diagnosed with autism. Given the challenges of recruiting health professionals to work with people with disabilities in general, it is important to understand the factors that affect students’ choices about working with people with autism, in particular. The aim of the present study was to assess attitudes of students in various health and social professions toward working with people with autism. An elicitation study based on the theory of planned behavior was conducted among 42 female students from the departments of social work, education, nursing, occupational therapy, and communication disorders/speech and language therapy. Working with people with autism was perceived as difficult, challenging, and frustrating, yet rewarding, important, and an opportunity to develop personally and professionally. Furthermore, the importance of awareness to stigmatic beliefs was raised. Familiarity, knowledge, and training were perceived as important. The results call for increasing university curriculum in the area of autism, increasing the contact of students with this population and focusing on training in interprofessional collaboration.
16. Whitehouse AJ, Maybery MT, Hickey M, Sloboda DM. {{Brief Report: Autistic-Like Traits in Childhood Predict Later Age at Menarche in Girls}}. {J Autism Dev Disord}. 2010 Dec 24.
We investigated the relationship between autistic-like traits in early childhood and age at menarche in typically developing girls. Autistic-like symptoms were measured at age 2 years using the Child Behaviour Checklist, and age at menarche (AAM) was determined prospectively using self-report questionnaires at age 8, 10, 14 and 17 years. Girls with ‘high’ autistic-like symptoms at age 2 years demonstrated significantly later AAM (n = 70; M = 13.07 years; SD = 1 year) than girls reported to show ‘typical’ (n = 216; M = 12.72 years; SD = 1.1) or ‘low’ (n = 47; M = 12.66 years; SD = 1.13 years) levels of these behaviors. These data further establish a link between the autism phenotype and later AAM and may provide insights into the etiology of the condition.
